Hematologic features of beta-globin gene mutation type (?o) with homozygous beta thalassemia

Abstract

β-Tthalassemia is common genetic disorders in Turkey that characterized by the reduced synthesis (β+) or absence (βo) of the β-globin chains in the HbA molecule. In this study, we aimed to determine the effect of the mutation type of the β-globin gene on hematological values in homozygous β-thalassemia. This retrospective study was undertaken by Prenatal Diagnosis Centres of Cukurova University Medical Biochemistry at Adana. We evaluated 60 homozygous by implementing DNA sequencing analysis for mutations undetectab­le by conventional methods. 30 patients with βo [FSC 44/ C-A] mutations and the other 30 patients with βo [(IVS-II-1(G>A), CD39 (C>T), Cd8 (-AA) Cd39 C> T and CD36/37 (–T)] mutations, totally 60 patients were included in the study. Erythrocyte indices, HbF, HbA2 levels were compared between the two groups. FSC 44/(-C) mutations were detected in patients. Hb, Hct, MCV in this group values were statistically lower than in patients with other detected mutations (P < 0.05). Between the two groups, there is no statistically different RBC, MCH, MCHC, HbF, HbA2 levels (P ˃ 0.05). For the first time in this study, it was found that the Hb, Hct and MCV value of the persons who carried the FSC 44/(-C) mutation were significantly lower than the persons who carrying other mutations. Between the two groups, there was no statistical difference in RBC, MCH, MCHC, HbF and HbA2 levels. Awareness of FSC/44 mutation, which may have a heterogeneous clinical presentation, is required. We herein present the hematologic findings of a Turkish population carrying this mutation. This will also help to make a diagnosis.

Keywords

• DNA sequence analysis
• erythrocyte indices
• FSC 44/(-C)
• Homozygous beta thalassemia